PMC Articles for MedGen (Select 482131) - PMC - NCBI

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Items: 4

Select item 81001281.

Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Issei Imoto, Masako Saito, Kenichi Suga, Tomohiro Kohmoto, Masanobu Otsu, Keisuke Horiuchi, Hironao Nakayama, Shigeki Higashiyama, Mayumi Sugimoto, Ayumi Sasaki, Yukako Homma, Miki Shono, Ryuji Nakagawa, Yasunobu Hayabuchi, Shoichiro Tange, Shoji Kagami, Kiyoshi Masuda

Sci Rep. 2021; 11: 9552. Published online 2021 May 5. doi: 10.1038/s41598-021-89063-0

PMCID:: PMC8100128

Abstract Article PDF–2.4M

Select item 63027682.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev

Front Immunol. 2018; 9: 2863. Published online 2018 Dec 14. doi: 10.3389/fimmu.2018.02863

PMCID:: PMC6302768

Abstract Article PDF–1.4M

Select item 37697883.

Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

Adriana Almeida De Jesus, Raphaela Goldbach-Mansky

Clin Immunol. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Clin Immunol. 2013 Jun; 147(3): 155–174. Published online 2013 Apr 9. doi: 10.1016/j.clim.2013.03.016

PMCID:: PMC3769788

Abstract Article PDF–621K

Select item 25850604.

Loss of Kindlin-1 Causes Skin Atrophy and Lethal Neonatal Intestinal Epithelial Dysfunction

Siegfried Ussar, Markus Moser, Moritz Widmaier, Emanuel Rognoni, Christian Harrer, Orsolya Genzel-Boroviczeny, Reinhard Fässler

PLoS Genet. 2008 Dec; 4(12): e1000289. Published online 2008 Dec 5. doi: 10.1371/journal.pgen.1000289

PMCID:: PMC2585060

Abstract Article PDF–2.3M

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